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Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.

Stefan RentasKomal S RathiManinder KaurPichai RamanIan D KrantzMahdi SarmadyAhmad N Abou Tayoun
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
The LCL transcriptome enables robust frontline and/or reflexive diagnostic testing for neurodevelopmental disorders.
Keyphrases
  • single cell
  • rna seq
  • gene expression
  • genome wide
  • congenital heart disease
  • case report
  • drug induced